Variant report

Variant	esv3381614
Chromosome Location	chr6:31205573-31208471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192221460	chr6:31205614-31205615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111524572	chr6:31205773-31205774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538259763	chr6:31205833-31205834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57568041	chr6:31205868-31205869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs58164018	chr6:31205888-31205889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs3869117	chr6:31205923-31205924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs183681477	chr6:31205981-31205982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537310062	chr6:31206001-31206002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565802423	chr6:31206023-31206024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114872306	chr6:31206081-31206082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541079193	chr6:31206091-31206092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553033139	chr6:31206115-31206116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115427606	chr6:31206133-31206134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188148817	chr6:31206134-31206135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369932807	chr6:31206140-31206141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538156541	chr6:31206171-31206172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116948388	chr6:31206192-31206193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114266931	chr6:31206261-31206262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73728435	chr6:31206264-31206265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73728436	chr6:31206266-31206267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4451179	chr6:31206347-31206348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117767616	chr6:31206375-31206376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7756999	chr6:31206408-31206409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs376882774	chr6:31206423-31206424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565776936	chr6:31206426-31206427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72863883	chr6:31206445-31206446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140877286	chr6:31206492-31206493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201290245	chr6:31206518-31206519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548315989	chr6:31206558-31206559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569784076	chr6:31206578-31206579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536870645	chr6:31206611-31206612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3130531	chr6:31206616-31206617	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs553962202	chr6:31206637-31206638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192926397	chr6:31206672-31206673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150195378	chr6:31206681-31206682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114070457	chr6:31206695-31206696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574584683	chr6:31206696-31206697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541883607	chr6:31206700-31206701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542816692	chr6:31206701-31206702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557180303	chr6:31206715-31206716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2394893	chr6:31206719-31206720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs546097359	chr6:31206739-31206740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28397296	chr6:31206747-31206748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs138695659	chr6:31206752-31206753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73728438	chr6:31206768-31206769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559350647	chr6:31206780-31206781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529715527	chr6:31206798-31206799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567808310	chr6:31206811-31206812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3134768	chr6:31206844-31206845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs142057843	chr6:31206849-31206850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31202600-31213600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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